Labrum, 2009: Overview of all reported PxMD-CACNA1A patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
3
|
8
|
n.a.
|
-Limb ataxia (interictal)
-Gait ataxia (interictal) Nausea (ictal) Ataxia Nausea Emotional stress trigger Gait ataxia Headache Ataxia (ictal) -Gait ataxia (ictal) Ataxia, limb Show more (+8) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
39
|
n.a.
|
n.a.
|
Square wave jerks
Nystagmus (interictal) -Gait ataxia (ictal) Dysarthria (ictal) Headache Ataxia Gait ataxia Nystagmus Ataxia (ictal) Dysarthria Show more (+7) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
5
|
n.a.
|
n.a.
|
Ataxia
Square wave jerks Gait ataxia Headache Vertigo (ictal) Vomiting (ictal) Ataxia, limb (ictal) Dysarthria Vertigo Ataxia (ictal) Nystagmus Dysarthria (ictal) Vomiting Headache (ictal) -Gait ataxia (ictal) Nystagmus (interictal) -Gait ataxia (interictal) Ataxia, limb Show more (+15) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
Nausea (ictal)
Ataxia Dysarthria -Gait ataxia (ictal) Emotional stress trigger Ataxia (ictal) Nystagmus Dysarthria (ictal) Gait ataxia Nausea Show more (+7) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
4
|
59
|
n.a.
|
Dysarthria (ictal)
-Gait ataxia (interictal) -Gait ataxia (ictal) Ataxia (ictal) Fatigue trigger Dysarthria (interictal) Headache (ictal) Headache Emotional stress trigger Nystagmus Ataxia Gait ataxia Diplopia (ictal) Diplopia Dysarthria Ataxia, limb Nystagmus (interictal) Show more (+14) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
10
|
n.a.
|
n.a.
|
Nausea (ictal)
Vertigo Gait ataxia Ataxia (ictal) Seizures Vomiting (ictal) Cerebellar atrophy -Gait ataxia (ictal) Vertigo (ictal) Ataxia -Limb ataxia (interictal) Ataxia, limb Nystagmus (ictal) Nausea Vomiting Nystagmus Show more (+13) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
2
|
n.a.
|
n.a.
|
-Gait ataxia (interictal)
Gait ataxia Ataxia (ictal) -Gait ataxia (ictal) Nystagmus Vomiting (ictal) Vomiting Ataxia Nystagmus (interictal) Show more (+6) |
n.a.
|